primary ciliary dyskinesia 23

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozyg

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.

Signs and symptoms

• Situs inversus totalis
• Productive cough
• Bronchiectasis
• Recurrent sinusitis
• Chronic bronchitis
• Respiratory insufficiency due to defective ciliary clearance
• Ciliary dyskinesia
• Chronic rhinitis
• Recurrent pneumonia
• Neonatal respiratory distress

Also known as: CILD23; primary ciliary dyskinesia 23 with or without situs inversus